Alpha-1-antitrypsin deficiency in a large sibship.
We studied alpha 1-antitrypsin deficiency in a large family of 10 siblings: 3 subjects had PiZZ phenotype, but only 1 had emphysema; 2 subjects had no respiratory complaint. The patient with emphysema was a heavy smoker. According to the literature, this case suggests that, in PiZZ phenotype, emphysema appears earlier and is more severe if the patients smoke.
Apprill
M
M
Laboratoire d'Explorations Fonctionnelles Respiratoires, Strasbourg, France.
North
M L
ML
Mirhom
R
R
Weitzenblum
E
E
D000328:Adult; D003241:Consanguinity; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011656:Pulmonary Emphysema / Q000201:enzymology / Q000235:genetics; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
D000515:alpha 1-Antitrypsin